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         Cockayne Syndrome:     more detail
  1. Molecular Mechanisms of Cockayne Syndrome
  2. Cockayne Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  3. Cockayne syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Suzanne, MS, CGC Carter, 2005
  4. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts [An article from: DNA Repair] by G. Spivak, P.C. Hanawalt,
  5. Epidermolysis bullosa simplex: localized (Weber-Cockayne type).(Clinical Snapshot): An article from: Dermatology Nursing by Kate de Banter, 2004-12-01
  6. ACCELERATED AGING: HUMAN PROGEROID SYNDROMES: An entry from Macmillan Reference USA's <i>Encyclopedia of Aging</i> by DAVID K. ORREN, 2002
  7. Cockayne syndrome
  8. Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg [An article from: DNA Repair] by N. Shiomi, M. Mori, et all 2005-03-02
  9. New insights for understanding the transcription-coupled repair pathway [An article from: DNA Repair] by A. Sarasin, A. Stary, 2007-02-04
  10. An integrated mechanistic model for transcription-coupled nucleotide excision repair [An article from: DNA Repair] by S. Patel, K.V. Venkatesh, et all 2004-03-04
  11. The yeast rDNA locus: A model system to study DNA repair in chromatin [An article from: DNA Repair] by A. Conconi,
  12. Mending human genes: A job for a lifetime [An article from: DNA Repair] by J.E. Cleaver, 2005-05-02
  13. Repair of DNA lesions in chromosomal DNA [An article from: DNA Repair] by M. Fousteri, A. van Hoffen, et all
  14. Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice [An article from: DNA Repair] by C. Backendorf, J. de Wit, et all

21. Cockayne Syndrome
Founded 1981. Mutual support and networking for families affected by Cockaynesyndrome (cachectic dwarfism). Self Help Clearinghouse. cockayne syndrome.
http://www.bchealthguide.org/kbase/shc/shc29coc.htm
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Self Help Clearinghouse
Cockayne Syndrome
Share and Care Cockayne Syndrome Network
International network. Founded 1981.
Mutual support and networking for families affected by Cockayne syndrome (cachectic dwarfism). Sharing of information between families and professionals. Maintains registry of families. Information and referrals, newsletter, phone support. Pamphlet available in English, Spanish, German, Portuguese and Japanese.
WRITE:
Share and Care Cockayne Ntwrk.
c/o Shirly Rodriguez
P.O. Box 570618
Dallas, TX 75357
CALL: 972-613-6273
FAX: 972-613-4590
E-MAIL: J93082@aol.com
WEBSITE: http://www.cockayne-syndrome.com VERIFIED: 4/11/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

22. LookSmart - Directory - Cockayne Syndrome
Muscle cockayne syndrome. cockayne syndrome General information,overviews, organizations, and support groups for cockayne syndrome.
http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us54701/us100
@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home
IN the directory this category
YOU ARE HERE Home Personal Health
Cockayne Syndrome - General information, overviews, organizations, and support groups for Cockayne Syndrome.
Directory Listings About
  • eMedicine - Cockayne Syndrome
    Read an article by Suzanne M Carter, MS, about this autosomal recessive disorder featuring growth deficiency, premature aging, and pigmentary retinal degeneration.
    NCBI Genes and Diseases - Edward Alfred Cockayne

    Learn about Cockayne syndrome, a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging.
    Share and Care Cockayne Syndrome Network

    Offering disease details, FAQs, tests and research, and news. Includes a support group, events, and links to other resources.
  • We're always looking for ways to improve your search experience. Tell us how we're doing. Join the Zeal community and help build the "Cockayne Syndrome" Directory Category
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    23. Cockayne Syndrome Articles, Support Groups, And Resources
    cockayne syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). cockayne syndrome.
    http://www.medhelp.org/HealthTopics/Cockayne_Syndrome.html
    [Health Topics A-Z]
    A
    B C D ... Z
    Cockayne Syndrome

    [Med Help Home]
    [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

    24. Cockayne Syndrome - Medical Dictionary Definitions Of Popular Medical Terms
    MedicineNet Home MedTerms medical dictionary AZ List cockayne syndrome. Cockaynesyndrome is a transcription and DNA repair deficiency syndrome.
    http://www.medterms.com/script/main/art.asp?articlekey=16913

    25. Cockayne Syndrome
    cockayne syndrome. broader Abnormalities, Multiple; Dwarfism. GeneReviews cockayne syndrome. Notes for physicians on cockayne syndrome.
    http://omni.ac.uk/browse/mesh/C0009207L0009207.html
    low graphics
    Cockayne Syndrome
    broader: Abnormalities, Multiple Dwarfism other: Achondroplasia Alagille Syndrome Angelman Syndrome Beckwith-Wiedemann Syndrome ... GeneReviews : Cockayne syndrome Notes for physicians on Cockayne syndrome. This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in December 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Cockayne Syndrome / genetics
    Last modified: 27 May 2004

    26. Cockayne, Syndrome : Sites Et Documents Francophones
    Translate this page progéroïde. Voir aussi retard mental . Arborescence(s) du thesaurusMeSH contenant le mot-clé Cockayne, syndrome cockayne syndrome
    http://www.chu-rouen.fr/ssf/pathol/cockaynesyndrome.html
    Cockayne, syndrome Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome héréditaire phénotypiquement caractérisé par un facies peu commun (grandes oreilles et yeux enfoncés dans les orbites), un échec de croissance, une détérioration intellectuelle, une perte de graisse sous-cutanée, une dégénération rétinienne pigmentaire, une surdité neurale, un nanisme, une photosensibilité, une atrophie du nerf optique, une neuropathie périphérique, et une cataracte. L'examen pathologique indique une perte inégale de myéline centrale et une atrophie de la substance blanche. Le syndrome de Cockayne peut être divisé en 2 ou plusieurs sous-types génétiques distincts. (d'après Menkes, Manuel de Neurologie chez l'enfant, 5ème ED, p197)
    Synonyme(s) CISMeF Cockayne type 1, syndrome de ; Cockayne type 2, syndrome de ; Cockayne type 3, syndrome de .
    Synonyme(s) MeSH Nanisme progéroïde
    Voir aussi retard mental
    Arborescence(s) Cockayne, syndrome Cockayne syndrome
    appareil locomoteur, maladies
    endocrinopathies maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter Ou consulter ci-dessous une sélection des principales ressources :
    patient

    27. Weber-Cockayne Syndrome (www.whonamedit.com)
    Webercockayne syndrome A form of epidermolysis bullosa. Also known as Cockayne-Tourainesyndrome. Who named it? Home. List categories. Weber-cockayne syndrome
    http://www.whonamedit.com/synd.cfm/1183.html

    Home

    List categories

    Eponyms A-Z

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    Contact

    Whonamedit.com does not give medical advice.
    This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
    Weber-Cockayne syndrome Also known as:
    Cockayne-Touraine syndrome
    Synonyms: Acanthosis bullosa, epidermolysis bullosa; epidermolysis bullosa simplex Weber-Cockayne, simplex aestivalis; hand-feet epidermolysis bullosa syndrome, hyperplastic epidermolysis bullosa, localized epidermolysis bullosa syndrome. Associated persons: Edward Alfred Cockayne Albert Touraine Frederick Parkes Weber Description: A form of epidermolysis bullosa. Consists of recurrent, noninflammatory bullous eruptions mainly on the feet, less prominently on the hands. Onset after mechanically induced trauma (blisters) in early childhood, but also in adult age, especially in warm season. Both sexes affected. Sharp pain when bullae rupture. Heals without residual scarring or other changes, such as thickening of the skin. They are occasionally associated with hyperhidrosis. Autosomal dominant or recessive inheritance. Warm weather, irritation, pressure, and moisture appear to be factors in the production of the syndrome. Probably a mildly pronounced form of the generalised Epidermolysis bullosa simplex Koebner.

    28. Cockayne Syndrome - Genetics Home Reference
    Research studies PubMed Recent literature OMIM Genetic disorder catalog. Cockaynesyndrome. What is cockayne syndrome? How common is cockayne syndrome?
    http://ghr.nlm.nih.gov/condition=cockaynesyndrome
    A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Cockayne syndrome
    Cockayne syndrome
    What is Cockayne syndrome?
    Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after the age of 1 year). Cockayne syndrome, type II (sometimes called COFS) is an early-onset form, with severe symptoms that are apparent at birth (congenital). A few cases of type III Cockayne syndrome, which has mild symptoms and onset in late childhood, have been reported. Some individuals have combined features of Cockayne syndrome and another photosensitivity disorder called xeroderma pigmentosum, which is characterized by a wide variety of skin changes, from mild freckling to skin cancer.

    29. Cockayne Syndrome
    cockayne syndrome. Late Onset, cockayne syndrome Type III (Type C). GeneralDiscussion. cockayne syndrome (CS) is a rare form of dwarfism.
    http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord176

    30. Cockayne Syndrome
    cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded
    http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29coc

    31. Cockayne Syndrome Information Diseases Database
    cockayne syndrome may cause or feature Medical information linksCockaynesyndrome specific sites. Medical dictionary, library and
    http://www.diseasesdatabase.com/ddb2907.htm
    Diseases Database Index Sponsors Contact ... Previous Page
    Cockayne syndrome Information
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    Cockayne syndrome Cockayne syndrome: Definition(s) via UMLS Code translations and terms via UMLS Cockayne syndrome: specific sites Send Cockayne syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these:
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    32. Cockayne Syndrome - The Knowledge Database Of The Swedish National Board Of Heal
    cockayne syndrome. To the Swedish version cockayne syndrome type 1. In thisform, the classic type, the child develops normally for the first year.
    http://www.sos.se/smkh/2002-110-6/2002-110-6.htm
    Socialstyrelsen
    106 30 Stockholm
    e-post

    With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions.
    Cockayne Syndrome
    Table of Contents
    The disease/injury/diagnosis
    Incidence

    Aetiology of the disease/injury

    Heredity
    ...
    Database references
    Document date: 2002-04-29
    Version 1.1
    Article number: 2002-110-6 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require.
    The disease/injury/diagnosis
    Cockayne Syndrome was named after Edward Alfred Cockayne (1880-1956), a dermatologist in England and a specialist in paediatric illnesses, particularly hereditary illnesses. Characteristic features in Cockayne Syndrome are: short stature, a particular appearance of premature ageing, balance difficulties (ataxia), visual problems (retinopathy and/or cataracts), progressive hearing loss, peripheral nerve damage, hypersensitivity to sunlight, and mental deficiency.

    33. Health Library -
    cockayne syndrome. Synonyms Disorder Subdivisions General Discussion Resources GeneralDiscussion. cockayne syndrome (CS) is a rare form of dwarfism.
    http://myhealth.barnesjewish.org/library/healthguide/illnessconditions/topic.asp

    34. Health Library -
    cockayne syndrome. This information is provided as a resource and does not constitutean endorsement for any group. Share and Care cockayne syndrome Network.
    http://myhealth.barnesjewish.org/library/healthguide/selfhelp/topic.asp?hwid=shc

    35. Disease Directory : Neurological Disorders : Neurodegenerative Diseases : Cockay
    Chin Med J (Taipei) 1997;59199203. (cockayne syndrome With - Chin CockayneSyndrome With Tetralogy of Fallot A Case Report. Clinical
    http://www.diseasedirectory.net/Neurological_Disorders/Neurodegenerative_Disease
    Wednesday, June 02, 2004 Neurological Disorders Neurodegenerative Diseases
    Alpers'

    Cockayne Syndrome
    ... Neurodegenerative Diseases : Cockayne Syndrome
    • Chin Med J (Taipei) 1997;59:199-203. (Cockayne Syndrome With ... - Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report. Clinical and cytobiological diagnosis of Cockayne syndrome. Cockayne syndrome - Selected medical images OMIM Cockayne syndrome. Cockayne syndrome; Cockayne Syndrome With Tetralogy of Fallot; Cockayne´s Syndrome; Cockayne syndrome - Cockayne syndrome. Cockayne syndrome is a rare genetic disorder characterized by a host of developmental problems including extremely Cockayne Syndrome - Genes and disease provides a short description of this inherited disorder. Cockayne Syndrome - Cockayne Syndrome Home Up Help Appeal What is XP? Contacts Links Feedback Donating Guestbook Search Site Map. The Share and Care Cockayne Syndrome Network, Inc. Cockayne Syndrome Cockayne Syndrome - Cockayne Syndrome (CS) is a rare form of dwarfism. It prematurel. National Organization for Rare Disorders, Inc. Cockayne Syndrome. Cockayne Syndrome - HUM-MOLGEN - Author, Topic: Cockayne Syndrome. Administrator Administrator, posted 10-02-2001 03:18 PM Click Here to See the Profile for Administrator

    36. Disease Directory : NORD: Cockayne Syndrome
    Diseases Neurological Disorders Tourette Syndrome NORD CockayneSyndrome. Organizations. Personal Pages. Directory Listing. Title
    http://www.diseasedirectory.net/detailed/2921.aspx
    Wednesday, June 02, 2004 Neurological Disorders
    Alternating Hemiplegia

    Alzheimer's

    Amyotrophic Lateral Sclerosis
    ... Tourette Syndrome : NORD: Cockayne Syndrome
    Directory Listing
    Title: NORD: Cockayne Syndrome
    Description: Offers the synonyms, a general discussion and resources.
    Date Added: 2/4/2004 1:23:48 PM
    URL: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cockayne%20Syndrome

    37. OMIM - COCKAYNE SYNDROME, TYPE I; CKN1

    http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216400

    38. Cockayne Syndrome,CS,Deafness-Dwarfism-Retinal Atrophy,Dwarfism With Renal Atrop
    cockayne syndrome,CS,DeafnessDwarfism-Retinal Atrophy,Dwarfism with Renal Atrophyand Deafness,Neill-Dingwall Syndrome,Progeroid Nanism,Classical Form
    http://www.icomm.ca/geneinfo/cockayne.htm
    Cockayne Syndrome,CS,Deafness-Dwarfism-Retinal Atrophy,Dwarfism with Renal Atrophy and Deafness,Neill-Dingwall Syndrome,Progeroid Nanism,Classical Form Cockayne Syndrome Type I (Type A),Congenital Form Cockayne Syndrome Type II (Type B),Late Onset Cockayne Syndrome Type III (Type C)
    For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
    to Information on the Internet about Genetic Disorders and Birth Defects

    Genetic Information and Patient Services, Inc. (GAPS)
    HOME
    DISORDERS GLOSSARY Cockayne Syndrome
    also known as:
    CS
    Deafness-Dwarfism-Retinal Atrophy
    Dwarfism with Renal Atrophy and Deafness
    Neill-Dingwall Syndrome
    Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) (as defined at
    What is Cockayne syndrome? Cockayne syndrome (Cockayne's syndrome; CS) is a rare genetic disease with autosomal recessive inheritance, meaning that the disease is inherited by an expected 1/4 of the children of apparently healthy parents. It is seen in about 1/100,000 live births, and affects all ethnic groups. Among the problems encountered in CS are: developmental delay, extremely short stature, poor weight gain, poor feeding, premature aging, extreme sunsitivity to sunlight and to other UV sources, cataracts (12 year life expectancy if present at birth), pigmentary retinopathy (retinitis pigmentosum) and blindness, "nerve" (sensorineural) deafness, severe tooth decay, and calcium deposits in the brain. CS patients tend to have faces with small chins, prominent and pointed noses, and ears that are unusually large for the head size. Their eyes tend to be sunken as one result of their abnormally low body fat, including under the skin on the face and elsewhere.

    39. Cockayne Syndrome
    cockayne syndrome. cockayne syndrome is a rare genetic disorder characterizedby a host of developmental problems including extremely
    http://www.biochemistry.ucla.edu/biochem/Faculty/Martinson/Cockayne.html
    Cockayne syndrome Cockayne syndrome is a rare genetic disorder characterized by a host of developmental problems including extremely short stature, premature aging, and extreme sensitivity to sunlight. The genetic defects responsible for this condition map to two genes, CSA and CSB , which code for proteins that are elongation factors. It is not yet known how the molecular defects in CSA and CSB give rise to the distinguishing clinical features of this disease. Back to Research Return to Home Page

    40. Cockayne Syndrome
    Selected medical images OMIM cockayne syndrome. cockayne syndrome;cockayne syndrome With Tetralogy of Fallot; Cockayne´s Syndrome;
    http://www.gfmer.ch/Genetic_diseases/Developmental_genetic_diseases/Cockayne.htm
    Selected medical images
    OMIM

    Cockayne syndrome Sources
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    Edited by Aldo Campana, August 13, 2003

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